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diagnosis neurology pediatrics syndrome 21hydroxylasedeficiency 21ohd endocrinology management manifestations neuromyelitis nmo optica posterior praderwilli pres reversible signs
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Neuromyelitis Optica (NMO) - Clinical Manifestations • Optic neuritis: Reduced visual acuity, ranging from mild to
facial numbness), Encephalopathy ... pain • Extra-CNS complications ... disorders (Systemic lupus ... Manifestations #diagnosis #neurology ... #symptoms #signs
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Posterior Reversible Encephalopathy ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs ... Posterior #Reversible #Encephalopathy
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